Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation

We studied the presynaptic nigrostriatal dopaminergic function using single photon emission computed tomography (SPECT) imaging of a 99m Tc-TRODAT-1 (TRODAT) scan in a dopa-responsive dystonia (DRD) family with the guanosine triphosphate cyclohydrolase 1 (GCH-1) gene mutation. Clinically, there was...

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Bibliographic Details
Published in:	Journal of neurology Vol. 265; no. 3; pp. 478 - 485
Main Authors:	Lin, Juei-Jueng, Lu, Chin-Song, Tsai, Chon-Haw
Format:	Journal Article
Language:	English
Published:	Berlin/Heidelberg Springer Berlin Heidelberg 01-03-2018 Springer Nature B.V
Subjects:	Aged Brain diseases Child Computed tomography Corpus Striatum - diagnostic imaging Corpus Striatum - drug effects Corpus Striatum - metabolism Dihydroxyphenylalanine Dopamine Dopamine - metabolism Dopamine receptors Dopamine transporter Dystonia Dystonic Disorders - diagnostic imaging Dystonic Disorders - drug therapy Dystonic Disorders - genetics Dystonic Disorders - metabolism Family Female GTP Cyclohydrolase - genetics Guanosine Humans Male Medical imaging Medicine Medicine & Public Health Middle Aged Movement disorders Mutation Neostriatum Neurodegenerative diseases Neuroimaging Neurology Neuroradiology Neurosciences Original Communication Parkinson's disease Point mutation Single photon emission computed tomography Substantia Nigra - diagnostic imaging Substantia Nigra - drug effects Substantia Nigra - metabolism Tomography, Emission-Computed, Single-Photon Parkinsonism Brain Dopamine transporter (DAT) Dopa-responsive dystonia (DRD) Guanosine triphosphate cyclohydrolase 1 (GCH-1) gene Tc-TRODAT-1 SPECT imaging Asymptomatic gene carrier Brain 99mTc-TRODAT-1 SPECT imaging
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